Early diagnosis of tuberous sclerosis complex – proposed guidelines for the follow-up of children with prenatal or perinatal findings of cardiac rhabdomyoma
Authors:
B. Petrák 1; V. Tomek 2; M. Mamiňák 1; B. Prosová 3; M. Vlčková 4; M. Dvořáková 3; M. Ebel 1; P. Kršek 1
Authors place of work:
Klinika dětské neurologie 2. LF UK a FN Motol, Praha
1; Dětské kardiocentrum, 2. LF UK a FN Motol, Praha
2; Klinika zobrazovacích metod 2. LF UK a FN Motol, Praha
3; Ústav biologie a lékařské genetiky 2. LF UK a FN Motol, Praha
4
Published in the journal:
Cesk Slov Neurol N 2025; 88(5): 283-289
Category:
Původní práce
doi:
https://doi.org/10.48095/cccsnn2025283
Summary
Aim: To propose a methodology for the early diagnosis of tuberous sclerosis complex (TSC) based on an evaluation of a prospectively monitored cohort of children diagnosed with cardiac rhabdomyoma (CR). Methods: Diagnosis of TSC is both genetic and clinical, based on the presence of 11 major and 7 minor clinical criteria. At least two major features are required to confirm the diagnosis. The earliest major feature is prenatal detection of CR, while additional major features may be identified on brain MRI. Between 2019 and 2024, 17 children with a prenatal or perinatal finding of CR were monitored at the Department of Pediatric Neurology and the Children‘s Heart Centre of the Motol University Hospital. All patients underwent fetal or early postnatal echocardiography and brain MRI, with regular EEG monitoring. The children were followed from the neonatal period with the aim of diagnosing TSC and epilepsy. Results: A diagnosis of TSC was confirmed in 14 out of 17 children (83%) monitored for CR. Epilepsy manifested in 13 of the 14 TSC patients (93%), with 10 of these 13 cases occurring within the first six months of life. A care protocol for patients with prenatal or perinatal findings of CR and a recommended approach for early TSC diagnosis have been summarized in several key points. Conclusion: Examination of the fetus or newborn with CR is critical for the early diagnosis of TSC and epilepsy, enabling risk reduction for the development of epileptic encephalopathy. We propose a diagnostic methodology for TSC in the context of a prenatal or perinatal finding of CR.
Keywords:
Epilepsy – tuberous sclerosis complex (TSC) – cardiac rhabdomyoma – fetal brain MRI – fetal echocardiography – early postnatal brain MRI – early diagnosis of TSC – molecular genetic diagnosis of TSC
Zdroje
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Štítky
Dětská neurologie Neurochirurgie NeurologieČlánek vyšel v časopise
Česká a slovenská neurologie a neurochirurgie
2025 Číslo 5
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